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Ontology Browser
Term:
syndromic X-linked intellectual disability type 10 (DOID:0060810)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
2,4-Dienoyl-CoA Reductase Deficiency  
Acetyl-Coa Carboxylase Deficiency  
alpha-methylacyl-CoA racemase deficiency  
APOLIPOPROTEIN A-II DEFICIENCY  
Apolipoprotein E, Deficiency or Defect of +   
Armfield syndrome  
Arts syndrome  
Ataxia +   
Athetosis +   
Barth syndrome +   
Basilicata-Akhtar syndrome  
Bobble-Head Doll Syndrome 
Borjeson-Forssman-Lehmann syndrome  
carnitine palmitoyltransferase I deficiency  
carnitine palmitoyltransferase II deficiency +   
carnitine-acylcarnitine translocase deficiency  
Catalepsy  
cerebrotendinous xanthomatosis  
choreatic disease +   
Christianson syndrome  
CK syndrome  
cold-induced sweating syndrome +   
Congenital Lp(A) Deficiency  
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome  
Cytosolic Acetoacetyl-CoA Thiolase Deficiency  
deafness-intellectual disability, Martin-Probst type syndrome  
Desmosterolosis  
Drug-Induced Dyskinesia +   
Dyskinesia with Orofacial Involvement +   
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Dyslipidemias +   
dystonia +   
familial combined hyperlipidemia +   
familial hyperlipidemia +   
Familial Infantile Convulsions and Paroxysmal Choreoathetosis  
female-restricted syndromic X-linked intellectual disability 99  
Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets  
Glycosylphosphatidylinositol Deficiency +   
Hyperkinesis +   
Hypertriglyceridemia, Transient Infantile  
Hypokinesia +   
hypolipoproteinemia +   
Infantile-Onset Limb and Orofacial Dyskinesia  
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE  
lingual-facial-buccal dyskinesia 
lipid storage disease +   
lipodystrophy +   
lipoid proteinosis  
lipomatosis +   
Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency +   
medium chain acyl-CoA dehydrogenase deficiency  
MEHMO syndrome  
MEND syndrome  
Mental Retardation, X-Linked, Syndromic, Ube2a-Related 
Microcephaly Pontocerebellar Hypoplasia Dyskinesia 
Miles-Carpenter syndrome +   
Mirror Movements 1  
Mirror Movements 2  
Mirror Movements 3  
Mirror Movements 4  
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency  
Mullegama-Klein-Martinez syndrome  
multiple congenital anomalies-hypotonia-seizures syndrome +   
Myoclonus +   
Myopathy with Abnormal Lipid Metabolism  
Paganini-Miozzo syndrome  
Pancreatic Lipase Deficiency  
Paroxysmal Exertion-Induced Dyskinesia and Hemolytic Anemia 
Partington syndrome  
peroxisomal acyl-CoA oxidase deficiency  
Prieto syndrome  
Psychomotor Agitation +   
Raynaud-Claes syndrome  
Refsum disease +   
Renpenning syndrome  
rhizomelic chondrodysplasia punctate type 4  
Schimke X-Linked Mental Retardation Syndrome 
short chain acyl-CoA dehydrogenase deficiency  
Smith-Lemli-Opitz syndrome +   
steroid inherited metabolic disorder +   
Stocco Dos Santos type X-linked intellectual disability  
syndromic X-linked intellectual developmental disorder 37  
syndromic X-linked intellectual developmental disorder Bain type  
syndromic X-linked intellectual disability 12 
syndromic X-linked intellectual disability 14  
syndromic X-linked intellectual disability 17 
syndromic X-linked intellectual disability 33  
syndromic X-linked intellectual disability 34  
syndromic X-linked intellectual disability 35  
syndromic X-linked intellectual disability 5  
syndromic X-linked intellectual disability 7 
syndromic X-linked intellectual disability 94  
syndromic X-linked intellectual disability Abidi type 
syndromic X-linked intellectual disability Cabezas type  
syndromic X-linked intellectual disability Chudley-Schwartz type 
syndromic X-linked intellectual disability Claes-Jensen type  
syndromic X-linked intellectual disability Hedera type  
syndromic X-linked intellectual disability Lubs type  
syndromic X-linked intellectual disability Najm type  
syndromic X-linked intellectual disability Nascimento type  
syndromic X-linked intellectual disability Pilorge type  
syndromic X-linked intellectual disability Raymond type  
syndromic X-linked intellectual disability Shashi type  
syndromic X-linked intellectual disability Shrimpton type 
syndromic X-linked intellectual disability Siderius type  
syndromic X-linked intellectual disability Snyder type  
syndromic X-linked intellectual disability Turner type  
syndromic X-linked intellectual disability type 10  
A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22. (DO)
syndromic X-linked intellectual disorder Lujan-Fryns-type  
syndromic X-linked mental retardation Hough type  
Synkinesis +  
Tics  
Tonne-Kalscheuer syndrome  
Tremor +   
Triglyceride Storage Disease, Type I 
Triglyceride Storage Disease, Type II 
Van Esch-O'Driscoll syndrome  
very long chain acyl-CoA dehydrogenase deficiency  
Wilson-Turner syndrome  
X-linked Aarskog syndrome  
X-linked intellectual developmental disorder 108  
X-linked intellectual developmental disorder 109  
X-Linked Intellectual Developmental Disorder 110  
X-Linked Intellectual Developmental Disorder 112  
X-Linked Intellectual Developmental Disorder 113  
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome  
X-linked intellectual disability-psychosis-macroorchidism syndrome  
X-linked intellectual disability-short stature-overweight syndrome  
X-linked mental retardation Gustavson type  
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance  
X-linked mental retardation-hypotonic facies syndrome-1  
xanthomatosis +   

Synonyms
Exact Synonyms: 17-Beta-Hydroxysteroid Dehydrogenase X Deficiency ;   17beta-hydroxysteroid dehydrogenase type 10 deficiency ;   2-Methyl-3-Hydroxybutyric Aciduria ;   2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency ;   3-Hydroxy-2-Methylbutyryl-CoA Dehydrogenase Deficiency ;   3-Hydroxyacyl-CoA Dehydrogenase II Deficiency ;   3-Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency ;   CAMR ;   Chorioathetosis With Mental Retardation And Abnormal Behavior ;   HSD10 MITOCHONDRIAL DISEASE
Primary IDs: MESH:C564560
Alternate IDs: MIM:300438
Xrefs: ICD10CM:G25.5 ;   ORDO:85295
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/10521307 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/17236142 "DO" "DO"

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